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1.
Radiología (Madr., Ed. impr.) ; 61(1): 16-25, ene.-feb. 2019. ilus, tab
Article in Spanish | IBECS | ID: ibc-185073

ABSTRACT

Para la mayoría de radiólogos y pediatras, el bazo es el "órgano olvidado", a pesar de estar afectado en múltiples situaciones clínicas de la infancia. Mientras que en el traumatismo abdominal pediátrico es el órgano más implicado, la patología esplénica no traumática es menos conocida. El bazo se visualiza bien mediante cualquier técnica de imagen: ecografía, tomografía computarizada, resonancia magnética, y de ellas, la primera es la más utilizada en niños. Conocer las características por imagen de las anomalías esplénicas, tanto congénitas como adquiridas, permite realizar una aproximación diagnóstica correcta, evitar procedimientos quirúrgicos o biopsias innecesarias y guiar al clínico hacia un tratamiento adecuado. Nuestro objetivo es mostrar el comportamiento del bazo en edad pediátrica con las diferentes técnicas de imagen: su anatomía normal, las principales variantes anatómicas y la patología esplénica no traumática más frecuente, correlacionando con clínica, serología o histología


The spleen is considered a "forgotten organ" by most radiologists and paediatricians despite being affected in many clinical paediatric situations. While it is the organ most often affected in paediatric abdominal trauma, non-traumatic spleen disorders are less well known. The spleen is well visualised by any imaging technique: ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI); the former is used most often in children. Using imaging techniques to determine the features of splenic anomalies, both congenital and acquired, enables a correct diagnostic approach, avoids unnecessary surgical procedures or biopsies, and helps the clinician to prescribe appropriate treatment. Our aim was to show the behaviour of the spleen in children using the different imaging techniques: its normal anatomy, the principal anatomical variants and the most common spleen disorder correlating with clinical symptoms, serology and histology


Subject(s)
Humans , Child , Splenic Diseases/diagnostic imaging , Diagnostic Imaging/methods , Spleen/abnormalities , Splenic Neoplasms/diagnostic imaging , Magnetic Resonance Spectroscopy/methods , Tomography, X-Ray Computed/methods , Ultrasonography/methods , Spleen/diagnostic imaging
2.
Radiologia (Engl Ed) ; 61(1): 16-25, 2019.
Article in English, Spanish | MEDLINE | ID: mdl-30314680

ABSTRACT

The spleen is considered a "forgotten organ" by most radiologists and paediatricians despite being affected in many clinical paediatric situations. While it is the organ most often affected in paediatric abdominal trauma, non-traumatic spleen disorders are less well known. The spleen is well visualised by any imaging technique: ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI); the former is used most often in children. Using imaging techniques to determine the features of splenic anomalies, both congenital and acquired, enables a correct diagnostic approach, avoids unnecessary surgical procedures or biopsies, and helps the clinician to prescribe appropriate treatment. Our aim was to show the behaviour of the spleen in children using the different imaging techniques: its normal anatomy, the principal anatomical variants and the most common spleen disorder correlating with clinical symptoms, serology and histology.


Subject(s)
Splenic Diseases/diagnostic imaging , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
3.
Radiología (Madr., Ed. impr.) ; 60(5): 378-386, sept.-oct. 2018. ilus
Article in Spanish | IBECS | ID: ibc-175298

ABSTRACT

El divertículo calicial (DC) es una eventración quística intraparenquimatosa tapizada por epitelio celular transitorio con una estrecha conexión infundibular con los cálices o pelvis del sistema colector renal, por lo que el término más exacto es divertículo pielocalicial. Muy raro en la edad pediátrica, puede ser sintomático y requerir tratamiento. Está infradiagnosticado por confundirse con quistes renales simples por ecografía; su diagnóstico se confirma con tomografía computarizada (TC) o resonancia magnética (RM) en fase excretora, para determinar su seguimiento y manejo. Nuestro objetivo es mostrar las diferentes formas de presentación de los DC en la edad pediátrica, haciendo hincapié en los criterios ecográficos que permiten una aproximación diagnóstica y en los hallazgos definitivos en TC y RM. También discutimos el diagnóstico diferencial con otras lesiones quísticas renales y su tratamiento


A calyceal diverticulum consists of a cystic eventration in the renal parenchyma that is lined with transitional cell epithelium with a narrow infundibular connection with the calyces or pelvis of the renal collector system; thus, the term pyelocalyceal diverticulum would be more accurate. Very rare in pediatric patients, calyceal diverticula can be symptomatic and require treatment. Calyceal diverticula are underdiagnosed because they can be mistaken for simple renal cysts on ultrasonography. To determine the approach to their follow-up and management, the diagnosis must be confirmed by excretory-phase computed tomography (CT) or magnetic resonance imaging (MRI). This article aims to show the different ways that calyceal diverticula can present in pediatric patients; it emphasizes the ultrasonographic findings that enable the lesion to be suspected and the definitive findings that confirm the diagnosis on CT and MRI. It also discusses the differential diagnosis with other cystic kidney lesions and their treatment


Subject(s)
Humans , Child , Kidney Calices/diagnostic imaging , Parenchymal Tissue/diagnostic imaging , Diverticulum/diagnostic imaging , Kidney Diseases, Cystic/diagnostic imaging , Kidney Calices/physiopathology , Diagnosis, Differential , Tomography, X-Ray Computed/methods , Magnetic Resonance Imaging/methods
4.
Radiologia (Engl Ed) ; 60(5): 378-386, 2018.
Article in English, Spanish | MEDLINE | ID: mdl-29706453

ABSTRACT

A calyceal diverticulum consists of a cystic eventration in the renal parenchyma that is lined with transitional cell epithelium with a narrow infundibular connection with the calyces or pelvis of the renal collector system; thus, the term pyelocalyceal diverticulum would be more accurate. Very rare in pediatric patients, calyceal diverticula can be symptomatic and require treatment. Calyceal diverticula are underdiagnosed because they can be mistaken for simple renal cysts on ultrasonography. To determine the approach to their follow-up and management, the diagnosis must be confirmed by excretory-phase computed tomography (CT) or magnetic resonance imaging (MRI). This article aims to show the different ways that calyceal diverticula can present in pediatric patients; it emphasizes the ultrasonographic findings that enable the lesion to be suspected and the definitive findings that confirm the diagnosis on CT and MRI. It also discusses the differential diagnosis with other cystic kidney lesions and their treatment.


Subject(s)
Diverticulum/diagnostic imaging , Kidney Calices/diagnostic imaging , Kidney Diseases/diagnostic imaging , Child , Child, Preschool , Diagnosis, Differential , Diverticulum/diagnosis , Female , Humans , Infant , Kidney Diseases/diagnosis , Male
5.
Radiología (Madr., Ed. impr.) ; 59(5): 391-400, sept.-oct. 2017. ilus
Article in Spanish | IBECS | ID: ibc-165915

ABSTRACT

La torsión testicular perinatal constituye el 10% de las torsiones testiculares en la edad pediátrica y se produce en el periodo prenatal o neonatal durante el primer mes de vida. La mayoría son extravaginales, siendo improbable la torsión intravaginal. Su manejo es controvertido debido a la baja viabilidad del testículo y a la posibilidad de torsión bilateral. La ecografía es el método de elección para su estudio. La combinación del modo B con el Doppler color o el power Doppler facilita el diagnóstico de forma rápida y segura. Revisamos la apariencia ecográfica de la torsión testicular neonatal en cada una de sus formas de presentación, el diagnóstico diferencial con otras causas de aumento de la bolsa escrotal en el neonato, y finalmente su tratamiento (AU)


Perinatal testicular torsion, defined as torsion occurring in the prenatal period or in the first month after birth, accounts for 10% of all cases of testicular torsion in pediatric patients. Most are extravaginal, and intravaginal torsion is rare. Its management is controversial, due to the low viability of the testis and the possibility of bilateral torsion. Ultrasonography is the method of choice to study testicular torsion. Combining B-mode and power Doppler imaging facilitates a fast reliable diagnosis. We review the ultrasonographic appearance of neonatal testicular torsion for each presentation, the differential diagnosis with other causes of increased scrotal volume in neonates, and its treatment (AU)


Subject(s)
Humans , Male , Infant, Newborn , Spermatic Cord Torsion , Prenatal Diagnosis/methods , Ultrasonography, Doppler, Color , Epididymitis , Diagnosis, Differential , Scrotum , Calcinosis , Hematoma/complications , Hematoma
6.
Neurología (Barc., Ed. impr.) ; 32(4): 241-252, mayo 2017. tab, ilus
Article in Spanish | IBECS | ID: ibc-162029

ABSTRACT

Introducción. El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia. En este trabajo se revisan las manifestaciones clínicas de los trastornos asociados al X frágil y el espectro de mutaciones en el gen 1 del retraso mental del X frágil (FMR1), la neurobiología de la proteína del retardo mental X frágil (FMRP) y una visión general de los potenciales blancos terapéuticos y el asesoramiento genético. Desarrollo. Esta enfermedad es causada por una amplificación de las repeticiones CGG (>200 repeticiones) en la región 5’ no traducida del gen FMR1, que lleva al déficit o ausencia de la proteína FMRP. La FMRP es una proteína de unión al ARN que regula la traducción de varios genes que son importantes en la plasticidad sináptica y la maduración dendrítica. Se cree que expansiones de las repeticiones CGG en el rango de premutación (55-200 repeticiones) generan un aumento en los niveles de mRNA de FMR1, lo que produciría toxicidad neuronal. Esto se manifiesta en problemas del desarrollo tales como autismo y problemas de aprendizaje, así como en patologías neurodegenerativas como el síndrome de temblor/ataxia asociado al X frágil (FXTAS). Conclusiones. Los avances en la identificación de las bases moleculares del SXF pueden servir como modelo para comprender las causas de las enfermedades neuropsiquiátricas y probablemente conducirán al desarrollo de tratamientos cada vez más específicos (AU)


Background. Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. Development. This disorder is caused by expansion of the CGG repeat (>200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). Conclusions. Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments (AU)


Subject(s)
Humans , Male , Female , Mental Retardation, X-Linked/diagnosis , Mental Retardation, X-Linked/drug therapy , Intellectual Disability/genetics , Autistic Disorder/genetics , DNA Methylation/genetics , Fragile X Mental Retardation Protein/analysis , Fragile X Mental Retardation Protein/administration & dosage , Fragile X Mental Retardation Protein/genetics , Neurobiology/methods , Intellectual Disability/diagnosis , Autistic Disorder/complications , Neuropathology/methods
7.
Radiología (Madr., Ed. impr.) ; 59(1): 31-39, ene.-feb. 2017. ilus
Article in Spanish | IBECS | ID: ibc-159694

ABSTRACT

Los quistes de ovario son los quistes abdominales más frecuentes en fetos y neonatos de sexo femenino. La ecografía es la técnica de imagen de elección para su diagnóstico, ya que permite además distinguirlos de otras lesiones quísticas. Aunque la mayoría de quistes de ovario neonatales (QON) involucionan en el transcurso de los primeros meses de vida, pueden presentar complicaciones durante el periodo fetal o posnatal. Las manifestaciones ecográficas de los QON van a estar en función de las mismas. El manejo es controvertido, con la tendencia actual de esperar y ver. Describimos las diferentes formas de presentación de los QON con sus patrones ecográficos y complicaciones, su diagnóstico diferencial con otras lesiones abdominales quísticas y, finalmente, su manejo terapéutico (AU)


Ovarian cysts are the most common abdominal cysts in female fetuses and newborn girls. Ultrasonography is the imaging technique of choice for diagnosing ovarian cysts because it makes it possible to differentiate them from other cystic lesions. Although most neonatal ovarian cysts regress in the first few months after birth, complications can occur during gestation or after birth. The manifestations of ovarian cysts on ultrasonography will depend on the complications. The management is controversial, although the current trend favors watchful waiting. We describe the different presentations of neonatal ovarian cysts with their complications and their patterns of findings on ultrasonography. We also discuss the differential diagnosis with other cystic abdominal lesions, and finally we discuss the therapeutic management of neonatal ovarian cysts (AU)


Subject(s)
Humans , Female , Infant, Newborn , Ovarian Cysts/complications , Ovarian Cysts , Diagnosis, Differential , Prenatal Diagnosis/trends , Ovarian Neoplasms/pathology , Ovarian Neoplasms , Ovarian Cysts/physiopathology , Ovarian Cysts/surgery , Ultrasonography/instrumentation , Ultrasonography/methods , Postnatal Care/trends
8.
Radiologia ; 59(5): 391-400, 2017.
Article in English, Spanish | MEDLINE | ID: mdl-28117098

ABSTRACT

Perinatal testicular torsion, defined as torsion occurring in the prenatal period or in the first month after birth, accounts for 10% of all cases of testicular torsion in pediatric patients. Most are extravaginal, and intravaginal torsion is rare. Its management is controversial, due to the low viability of the testis and the possibility of bilateral torsion. Ultrasonography is the method of choice to study testicular torsion. Combining B-mode and power Doppler imaging facilitates a fast reliable diagnosis. We review the ultrasonographic appearance of neonatal testicular torsion for each presentation, the differential diagnosis with other causes of increased scrotal volume in neonates, and its treatment.


Subject(s)
Spermatic Cord Torsion/diagnostic imaging , Diagnosis, Differential , Female , Humans , Infant, Newborn , Male , Pregnancy , Spermatic Cord Torsion/therapy , Ultrasonography , Ultrasonography, Prenatal
9.
Neurologia ; 32(4): 241-252, 2017 May.
Article in English, Spanish | MEDLINE | ID: mdl-25529181

ABSTRACT

BACKGROUND: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family. This study reviews the clinical manifestations of fragile X-associated disorders as well as the spectrum of mutations of the fragile X mental retardation 1 gene (FMR1) and the neurobiology of the fragile X mental retardation protein (FMRP), and also provides an overview of the potential therapeutic targets and genetic counselling. DEVELOPMENT: This disorder is caused by expansion of the CGG repeat (>200 repeats) in the 5 prime untranslated region of FMR1, resulting in a deficit or absence of FMRP. FMRP is an RNA-binding protein that regulates the translation of several genes that are important in synaptic plasticity and dendritic maturation. It is believed that CGG repeat expansions in the premutation range (55 to 200 repeats) elicit an increase in mRNA levels of FMR1, which may cause neuronal toxicity. These changes manifest clinically as developmental problems such as autism and learning disabilities as well as neurodegenerative diseases including fragile X-associated tremor/ataxia syndrome (FXTAS). CONCLUSIONS: Advances in identifying the molecular basis of fragile X syndrome may help us understand the causes of neuropsychiatric disorders, and they will probably contribute to development of new and specific treatments.


Subject(s)
Ataxia/genetics , Fragile X Mental Retardation Protein/genetics , Fragile X Mental Retardation Protein/pharmacology , Fragile X Syndrome/genetics , Tremor/genetics , Ataxia/diagnosis , Autistic Disorder , Fragile X Syndrome/diagnosis , Humans , Intellectual Disability , Mutation/genetics , RNA, Messenger , Tremor/diagnosis
10.
Radiologia ; 59(1): 31-39, 2017.
Article in English, Spanish | MEDLINE | ID: mdl-28024877

ABSTRACT

Ovarian cysts are the most common abdominal cysts in female fetuses and newborn girls. Ultrasonography is the imaging technique of choice for diagnosing ovarian cysts because it makes it possible to differentiate them from other cystic lesions. Although most neonatal ovarian cysts regress in the first few months after birth, complications can occur during gestation or after birth. The manifestations of ovarian cysts on ultrasonography will depend on the complications. The management is controversial, although the current trend favors watchful waiting. We describe the different presentations of neonatal ovarian cysts with their complications and their patterns of findings on ultrasonography. We also discuss the differential diagnosis with other cystic abdominal lesions, and finally we discuss the therapeutic management of neonatal ovarian cysts.


Subject(s)
Ovarian Cysts/diagnostic imaging , Ultrasonography , Diagnosis, Differential , Female , Humans , Infant, Newborn
11.
Rev. chil. cir ; 67(1): 70-75, feb. 2015. ilus
Article in Spanish | LILACS | ID: lil-734742

ABSTRACT

Background: Arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system and forming arterial, venous and capillary nests. Case report: We report a female consulting for the first time at the age of 15 for an AVM located in the left posterior region of the neck. The patient was operated at that time, performing an extensive excision of the lesion and covering the defect with a skin flap. The lesion relapsed three years later. Vascular imaging revealed the malformation with afferent arteries from the subclavian, vertebral and left occipital arteries and a great posterior cervical nest that drained through a great anomalous vein to the subclavian vein. A surgical ligation of all the anomalous branches of the subclavian vein was performed, to perform a local excision in a second intervention. The patient got pregnant, delaying the intervention and had a normal delivery at the age of 19. At 21 years of age, she consulted again due to a great growth of her AVM, with repeated bleeding episodes, requiring transfusions. The patient was treated with embolization of the nest and the afferent arteries. Finally at 23 years of age, the lesion was excised again and the defect was covered with a skin flap. The patient had a good postoperative evolution.


Introducción: Las Malformaciones Arterio-Venosas (MAV) son alteraciones estructurales congénitas del desarrollo del sistema vascular en que se observan comunicaciones anómalas arterio-venosas conformando un "nido" arterio-venoso-capilar. Caso Clínico: Mujer que consulta a los 15 años de edad por una MAV en la región cervical posterior izquierda desde su nacimiento. Se efectúa una resección amplia de la lesión hasta el plano aponeurótico cubriendo el defecto con un colgajo de rotación cutáneo-adiposo. Evoluciona bien, pero recidiva luego de tres años. Un estudio vascular a los 18 años de edad evidencia la MAV con arterias aferentes desde la arteria subclavia, vertebral y occipital izquierdas, un gran "nido" cervical posterior que drena por una gran vena anómala hacia la vena subclavia izquierda. Se efectúa una ligadura quirúrgica de todas las gruesas ramas anómalas de la arteria subclavia, para efectuar una nueva resección local en un segundo tiempo. Sin embargo, esto se pospone pues la paciente se embaraza y tiene un parto normal a los 19 años. Vuelve a consultar a los 21 años por un gran crecimiento de su MAV con hemorragias a repetición, algunas muy profusas que obligan a transfundirla. Una AngioRNM confirma la MAV con un gran nido cervical posterior con nuevas aferencias. Se efectúa embolizaciones directas locales con espuma de polidocanol y micropartículas, y finalmente con alcohol. Una vez reducido el nido se emboliza además las principales aferencias por vía endovascular y se efectúa a los 23 años una amplia resección de la MAV cubriendo el defecto con un colgajo miocutáneo de dorsal ancho izquierdo. Ha evolucionado bien hasta ahora. Conclusión: El diagnóstico y tratamiento de una MAV compleja representa un gran desafío al equipo médico tratante que acompaña y atiende al paciente en el transcurso del tiempo, y a veces por el resto de la vida.


Subject(s)
Humans , Adolescent , Female , Arteriovenous Malformations/surgery , Arteriovenous Malformations/complications , Subclavian Artery/abnormalities , Embolization, Therapeutic , Arteriovenous Malformations/diagnosis , Neck , Recurrence , Surgical Flaps
12.
Radiologia ; 57(4): 314-20, 2015.
Article in Spanish | MEDLINE | ID: mdl-25015554

ABSTRACT

OBJECTIVE: To evaluate the diagnostic performance of acoustic radiation force impulse imaging (ARFI) in detecting significant hepatic fibrosis in children. MATERIAL AND METHODS: Our hospital's ethics committee approved the study and all patients or their representatives provided informed written consent. We included 96 children (50 boys, 46 girls; mean age, 8 y). We also studied 16 volunteers without liver disease as controls and 80 patients with diseases that can lead to fibrosis and cirrhosis of the liver. The final sample included 31 patients with biopsies and the 16 controls. All patients underwent abdominal ultrasonography including Doppler imaging and elastography with ARFI. The ARFI value, expressed as velocity (m/s) of shear wave propagation through the tissue, was calculated by averaging 16 measurements in both liver lobes. We used one-way analysis of variance to compare means between groups; we set statistical significance at P<.05. We used Student's t-tests and chi-square tests for categorical data. RESULTS: The ARFI value in children with fibrosis ≥ F2 was higher (1.80±0.45m/s) than in controls and higher than in patients with F0-F1 (1.38±0.22m/s). The difference was significant (P<.001) for detecting F ≥ 2. Steatosis was not related with the ARFI value (Student's t-test, P>.84). Necroinflammatory activity was strongly associated with the ARFI value (Student's t-test, P<.01). Fibrosis and necroinflammatory activity were strongly associated with each other (chi-square test, P<.0001). CONCLUSION: The speed of shear wave propagation is significantly associated with the degree of hepatic fibrosis in children.


Subject(s)
Elasticity Imaging Techniques , Liver Cirrhosis/diagnostic imaging , Adolescent , Biopsy , Child , Child, Preschool , Female , Humans , Infant , Liver Cirrhosis/pathology , Male , Prospective Studies
13.
J Perinatol ; 34(9): 705-10, 2014 Sep.
Article in English | MEDLINE | ID: mdl-25010224

ABSTRACT

OBJECTIVE: Bronchopulmonary dysplasia (BPD) is the most common cause of pulmonary morbidity in premature infants and is associated with life-long morbidities. Developing drugs for the prevention of BPD would improve public health. We sought to determine characteristics of favorable randomized controlled trials (RCTs) of drugs for BPD prevention. STUDY DESIGN: We searched MEDLINE and EMBASE from 1992 to 2014 using the MeSH terms 'BPD' and 'respiratory distress syndrome, newborn'. We included a Cochrane Library search to ensure inclusion of all available RCTs. We identified RCTs with BPD as a primary or secondary outcome and determined the definition of BPD used by the study. We determined whether a phase I or phase II study-to determine drug safety, efficacy or optimal dose-was performed before the RCT. Finally, we searched the Cochrane Library for meta-analyses for each drug and used the results of available meta-analyses to define a favorable versus unfavorable RCT. RESULT: We identified 2026 articles; 47 RCTs met our inclusion criteria encompassing 21 drugs; 5 of the drugs reduced the incidence of BPD. We found data from phase I or II studies for 16 of the drugs, but only 1 demonstrated a reduction of BPD. CONCLUSION: The majority of the drugs studied in RCTs failed to reduce the incidence of BPD. Performing early-phase studies before phase III trials might provide necessary information on drugs and drug doses capable of preventing BPD, thus informing the development of future RCTs.


Subject(s)
Bronchopulmonary Dysplasia/prevention & control , Bronchopulmonary Dysplasia/drug therapy , Clinical Trials, Phase I as Topic , Humans , Infant, Newborn , Meta-Analysis as Topic , Randomized Controlled Trials as Topic
14.
Clin Genet ; 86(4): 378-82, 2014 Oct.
Article in English | MEDLINE | ID: mdl-24028275

ABSTRACT

Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated full mutation (FM). Here, we report a Chilean family affected with FXS, inherited from a parent carrier of an FMR1 unmethylated full mosaic allele, who presented with a fast progressing FXTAS. This case suggests that the definition of FXTAS may need to be broadened to not only include those with a premutation but also those with an expanded allele in FM range with a lack of methylation leading to elevated FMR1-mRNA expression levels and subsequent RNA toxicity.


Subject(s)
Ataxia/genetics , DNA Methylation/genetics , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/genetics , Tremor/genetics , Aged , Ataxia/complications , Ataxia/pathology , Chile , Fragile X Syndrome/complications , Fragile X Syndrome/pathology , Humans , Male , Mosaicism , Tremor/complications , Tremor/pathology
15.
J Perinatol ; 33(5): 347-51, 2013 May.
Article in English | MEDLINE | ID: mdl-23018796

ABSTRACT

OBJECTIVE: Late-preterm (LPT) neonates account for over 70% of all preterm births in the US. Approximately 60% of LPT births are the result of non-spontaneous deliveries. The optimal timing of delivery for many obstetric conditions at LPT gestations is unclear, likely resulting in obstetric practice variation. The purpose of this study is to identify variation in the obstetrical management of LPT pregnancies. STUDY DESIGN: We surveyed obstetrical providers in North Carolina identified from North Carolina Medical Board and North Carolina Obstetrical and Gynecological Society membership lists. Participants answered demographic questions and six multiple-choice vignettes on management of LPT pregnancies. RESULT: We obtained 215/859 (29%) completed surveys which are as follows: 167 (78%) from obstetrics/gynecology, 27 (13%) from maternal-fetal medicine, and 21 (10%) from family medicine physicians. Overall, we found more agreement on respondents' management of chorioamnionitis (97% would proceed with delivery), mild pre-eclampsia (84% would delay delivery/expectantly manage) and fetal growth restriction (FGR) (80% would delay delivery/expectantly manage). We found less agreement on the management of severe preeclampsia (71% would proceed with delivery), premature preterm rupture of membranes (69% would proceed with delivery) and placenta previa (67% would delay delivery/expectantly manage). Management of LPT pregnancies complicated by preterm premature rupture of membranes, FGR and placenta previa vary by specialty. CONCLUSION: Obstetrical providers report practice variation in the management of LPT pregnancies. Variation might be influenced by provider specialty. The absence of widespread agreement on best practice might be a source of modifiable LPT birth.


Subject(s)
Delivery, Obstetric , Practice Patterns, Physicians' , Pregnancy Complications/therapy , Premature Birth , Chorioamnionitis/therapy , Family Practice , Female , Fetal Growth Retardation/therapy , Fetal Membranes, Premature Rupture/therapy , Health Care Surveys , Humans , Neonatology , North Carolina , Obstetrics , Placenta Previa/therapy , Pre-Eclampsia/therapy , Pregnancy
16.
Rev. iberoam. fisioter. kinesiol. (Ed. impr.) ; 11(1): 26-31, ene. 2008. ilus
Article in Es | IBECS | ID: ibc-66954

ABSTRACT

Objetivo. Analizar los conceptos generales del dolorlocalizado en el talón que pudiera estar en relación conla irritación de la fascia plantar o del hueso del talón,donde se precisará la epidemiología del dolor, laetiopatogenia, el cuadro clínico referido por el pacienteasí como los estudios de imagenología que ayudarían asu diagnóstico.Método. El tratamiento se debe comenzar con medidassimples y con baja probabilidad de efectos secundarioshaciendo recomendaciones a los pacientes;posteriormente indicando medicamentos analgésicosy/o antinflamatorios no esteroideos y medidas físicasrehabilitadoras como termoterapia, ultrasonidos,magnetoterapia, hidroterapia, láser, iontoforesis,corrientes analgésicas de baja y media frecuencia, ondasde choque extracorpóreas, ortesis, taloneras, calzadoadecuado, yesos, masajes y ejercicios de estiramiento dela fascia plantar y en algunos casos bloqueo, anestésicodel nervio tibial posterior, infiltraciones con esteroides y en caso de ser necesario o estuviera indicado, la conducta quirúrgica.Conclusiones. Su diagnóstico precoz, el tratamientodel dolor, la descarga de la tensión de la fascia plantary la corrección de las anomalías del antepié y retropiéson factores que contribuyen atenuar las molestiasen el paciente y a disminuir la discapacidad queocasiona esta enfermedad de quienes la padecen


Objective. To analyze the general concepts of heel located pain that might be related to the irritation of the plantar fascia or bone of the heel, which require pain epidemiology, pathogenesis, clinical manifestationsreported by the patient and imaging studies that wouldhelp its diagnosis.Methods. Treatment should begin with simple measuresand with low probability of side effects recommendingpatients; subsequently indicating pain medication and /or non-steroidal antiinflammatory and physicalrehabilitative measures as thermotherapy, ultrasound,magnetotherapy, hydrotherapy, laser, iontophoresis, lowand medium frequency analgesic currents, extracorporealshock waves, bracing, plantar insoles, appropriatefootwear, plasters, massage and stretching exercises of the plantar fascia, and in some cases anesthetic blockade of the posterior tibial nerve, steroid infiltration and if necessary or indicated, surgical treatment.Conclusions. The early diagnosis and treatment,pain, discharge from the tension of the plantar fascia,the correction of forefoot and rearfoot anomalies arecontributing factors to ease discomfort in the patientand to reduce the disability that causes this diseaseto whom suffer


Subject(s)
Humans , Heel/injuries , Foot Injuries/rehabilitation , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Hot Temperature/therapeutic use , Achilles Tendon/injuries , Fasciitis, Plantar/therapy , Heel Spur/therapy , Diabetic Neuropathies/complications , /methods , Nerve Block
17.
J Anim Sci ; 82(11): 3138-43, 2004 Nov.
Article in English | MEDLINE | ID: mdl-15542459

ABSTRACT

The effect of selection for growth rate on carcass and meat quality was assessed by comparing selected and control populations of rabbits measured at the same stage of maturity and slaughtered at 9 and 13 wk of age. Embryos belonging to Generation 7 were frozen, thawed, and implanted in does to produce the control group. The control group was formed from the offspring of the embryos belonging to the Generation 7. Selected animals belonging to Generation 18 (S) were compared with contemporary animals of the control group (C). Carcasses were dissected and measured according to World Rabbit Science Association recommended practices. When animals were compared at similar degrees of maturity, selection for growth rate did not produce a negative effect on carcass and meat quality. There was no increase in fat content of the carcass, and there was an improvement of the meat:bone ratio with selection, with a difference between C and S groups of -0.42. However, the carcasses of S animals have 1.45% lower water-holding capacity. Carcass quality changed markedly with animal age. Heavy rabbit carcasses had lower organ percents and a higher loin percent. Dissectible and i.m. fat content were higher in older rabbits, with older animals having 0.97 and 0.79% more dissectible and i.m. fat content, respectively. Meat quality traits improved with age of slaughter, although there was an increase in glycolytic metabolism. Results from this study indicate that selection for growth rate has little effect in carcass and meat quality when rabbits are measured at the same stage of maturity.


Subject(s)
Body Composition/genetics , Meat/standards , Rabbits/growth & development , Rabbits/genetics , Selection, Genetic , Age Factors , Aging , Animals , Breeding
18.
Acta pediatr. esp ; 61(9): 465-473, oct. 2003. tab
Article in Es | IBECS | ID: ibc-25167

ABSTRACT

Objetivo: Evaluar la relación entre diferentes factores perinatales y la transmisión vertical del virus de la inmunodeficiencia humana (VIH).Método: Estudio observacional prospectivo. Desde el primer caso conocido en la Unidad del VIH en 1985 hasta abril de 1994, se compararon las características maternas y los parámetros neonatales de 62 niños infectados y 115 no infectados, todos ellos nacidos de mujeres VIH-seropositivas. Resultados: Las características de las madres (edad en el parto, número de abortos o estado de salud durante la gestación) que transmitieron el VIH a sus hijos fueron similares a las de aquéllas cuyos hijos no se infectaron. Nuestros resultados coinciden con otros estudios que consideran la utilización de zidovudina durante la gestación y la cesárea como medidas protectoras frente a la transmisión perinatal del VIII. Las tasas de complicaciones neonatales fueron similares para niños infectados y no infectados, pero las características del desarrollo intrauterino, como el bajo peso al nacer (OR= 1,8, p= 0,63) o pequeño para la edad gestacional (OR= 2,35, p= 0,19), fueron predictivas de infección en los hijos de mujeres seropositivas. La lactancia materna también se asoció con un incremento en la tasa de transmisión (OR= 4,02, p= 0,09). Conclusión: Hay factores de riesgo maternos, fetales y obstétricos asociados con la infección perinatal por VIH y, por tanto, hay que realizar una serie de intervenciones durante la gestación para minimizar la transmisión maternoinfantil del virus (AU)


Subject(s)
Female , Child , Humans , Infectious Disease Transmission, Vertical , HIV Infections/transmission , Risk Factors , Prospective Studies , Follow-Up Studies , HIV Infections/diagnosis , Gestational Age , Stratified Sampling , Infectious Disease Transmission, Vertical/prevention & control , Breast Feeding/adverse effects , Enzyme-Linked Immunosorbent Assay
19.
Heart ; 88(2): 153-7, 2002 Aug.
Article in English | MEDLINE | ID: mdl-12117842

ABSTRACT

BACKGROUND: QT abnormalities have been reported in left ventricular hypertrophy and hypertrophic cardiomyopathy. OBJECTIVE: To determine the relation between left ventricular hypertrophy and increased QT interval in familial hypertrophic cardiomyopathy. METHODS: The QT interval was measured in 206 genotyped adult subjects with familial hypertrophic cardiomyopathy from 15 unrelated families carrying mutations in the beta myosin heavy chain (beta-MHC) gene (five families, n = 68) or the cardiac myosin binding protein C (MyBPC) gene (10 families, n = 138). Subjects were classified as genetically unaffected (controls, n = 112), affected with left ventricular hypertrophy (penetrants, n = 58), or affected without left ventricular hypertrophy (non-penetrants, n = 36). RESULTS: There was a significant increase in QTmax and QTmin from controls to non-penetrants and penetrants for both the MyBPC group (p < or = 0.001 and p < or = 0.001, respectively) and the beta-MHC group (p < or = 0.001 and p < or = 0.001, respectively). In the MyBPC group, the increase in the QT interval could be explained by increased left ventricular hypertrophy. In the beta-MHC group, non-penetrants had a significantly longer QTmax than controls despite the absence of left ventricular hypertrophy, and a similar QT interval to penetrants despite a lesser degree of left ventricular hypertrophy. CONCLUSIONS: In familial hypertrophic cardiomyopathy, genetically affected subjects without left ventricular hypertrophy may have a prolonged QT duration, which depends not only on the degree of left ventricular hypertrophy, when present, but also on the causative mutation.


Subject(s)
Cardiomyopathy, Hypertrophic, Familial/physiopathology , Hypertrophy, Left Ventricular/physiopathology , Adult , Aged , Aged, 80 and over , Cardiomyopathy, Hypertrophic, Familial/genetics , Cardiomyopathy, Hypertrophic, Familial/pathology , Female , Genotype , Heart Rate/physiology , Humans , Hypertrophy, Left Ventricular/pathology , Male , Middle Aged , Mutation/physiology , Myosin Heavy Chains/genetics , Observer Variation
20.
Gac. sanit. (Barc., Ed. impr.) ; 14(6): 429-434, nov.-dic. 2000.
Article in Es | IBECS | ID: ibc-2619

ABSTRACT

Objetivo: Al principio de conocerse la infección por el virus de la inmunodeficiencia humana (VIH), la causa más importante de su transmisión en las mujeres occidentales fue el consumo de drogas por vía parenteral. El objetivo de nuestro trabajo consistió en describir las principales características sociales y clínicas de un grupo de madres seropositivas, y en analizar su relación potencial con el uso intravenoso de drogas. Métodos: Realizamos un estudio observacional prospectivo con 220 mujeres infectadas por VIH que presentaban la particularidad de haber dado a luz niños con riesgo de infección. Se incluyeron todas las madres reclutadas en la Unidad VIH de un hospital de Valencia que tuviesen definido el diagnóstico de su infección durante el período de estudio comprendido entre el primer caso materno conocido en 1985 y 1993. El análisis de los datos se basó en un análisis univariado. Resultados: La transmisión del virus se produjo por mantener relaciones heterosexuales en un 27,7 por ciento de las mujeres estudiadas, y a través de la drogadicción parenteral en el 69,1 por ciento. Se detectó mayor número de madres que abortaron, con antecedentes penales y abandono domiciliario entre las usuarias de drogas por vía parenteral (UDVP), con odds ratio (OR) de 1,8 (p = 0,087), 8,95 (p = 0,012) y 15 (p = 0,000), al compararlas con las madres no UDVP. Además las UDVP presentaron mayor probabilidad de contraer la infección por hepatitis B o C (OR = 7,06, p = 0,000) y de tener asociados otros hábitos tóxicos como tabaquismo (OR = 6,19, p = 0,000) y alcoholismo (OR = 5,91, p = 0,117).Conclusiones: Muchas de las características analizadas en estas mujeres estaban más relacionadas con el consumo de droga inyectada que con la infección por VIH, tales como la mayor frecuencia de abortos electivos, antecedentes penales, abandono domiciliario, politoxicomanías y antecedentes patológicos como hepatitis B o C (AU)


Subject(s)
Adult , Infant, Newborn , Female , Humans , Socioeconomic Factors , Spain , HIV Infections , Infectious Disease Transmission, Vertical , Parity , Prospective Studies , Substance-Related Disorders , Hepatitis C , Hepatitis B , HIV Seropositivity , Educational Status
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